| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.73638477T>C | CA253538 | SLC17A5 | c.548A>G (p.His183Arg) n.314A>G c.497A>G (p.His166Arg) c.350A>G (p.His117Arg) c.317A>G (p.His106Arg) c.569A>G (p.His190Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.73638477T= | CA1638220457 | SLC17A5 | c.548A= (p.His183=) n.314A= c.497A= (p.His166=) c.350A= (p.His117=) c.317A= (p.His106=) c.569A= (p.His190=) | dbSNP |